| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160042009C>T | CA130855 | KCNJ10 | c.496G>A n.95-2661G>A c.487+37G>A (n.487+37G>A) c.524G>A (p.Arg175Gln) c.246G>A c.494G>A (p.Arg165Gln) n.287G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160042009C= | CA1144229024 | KCNJ10 | c.496G= n.95-2661G= c.487+37G= (n.487+37G=) c.524G= (p.Arg175=) c.246G= c.494G= (p.Arg165=) n.287G= | dbSNP |